IUGR and IGF abnormalities

Region: ISCA-37429-Loss

4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss

Green List (high evidence)

Chromosome: 4
GRCh38 Position: 337779-2009235
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss

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Details

ISCA ID
ISCA-37429-Loss
ISCA Region Name
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
Chromosome
4
GRCh38 Coordinates
337779-2009235
Haploinsufficiency Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score
Required percent of overlap
80%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • 194190
  • Wolf-Hirschhorn syndrome
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

7 Sep 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Region: ISCA-37429-Loss was added Region: ISCA-37429-Loss was added to IUGR and IGF abnormalities. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905 Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome